Details of Disease | DrugMAP

General Information of Disease (ID: DIS4P2YC)

Disease Name	Combined oxidative phosphorylation deficiency 51
Synonyms	COXPD51
Disease Hierarchy	DISG5MW9: Combined oxidative phosphorylation deficiency DIS4P2YC: Combined oxidative phosphorylation deficiency 51
Disease Identifiers	MONDO ID MONDO_0033631 UMLS CUI C5436703 OMIM ID 619057 MedGen ID 1757992

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PTCD3	OTHTOLE0	Strong	Autosomal recessive	[1]
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References

1	Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome. Neurogenetics. 2019 Mar;20(1):9-25. doi: 10.1007/s10048-018-0561-9. Epub 2019 Jan 3.